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Mutations in the Human Homologue of the Drosophila patched Gene in Caucasian and African-American Nevoid Basal Cell Carcinoma Syndrome Patients¹

Intramural Research Support Program, Scientific Applications International Corp., Frederick [A. C., B. G.] and Human Genetics Section, Laboratory of Genomic Diversity [M. D.], Frederick Cancer Research and Development Center, National Cancer Institute, NIH, Frederick, Maryland 21702; Genetic Epidemiology Branch, National Cancer Institute, NIH, Bethesda, Maryland 20852 [A. M. G.]; Departments of Pediatrics, Dermatology, and Genetics, Yale University School of Medicine, New Haven, Connecticut 06520 [M. R. G., A. E. B.]; and Intramural Research Program, National Institute of Arthritis and Musculoskeletal and Skin Diseases, NIH, Bethesda, Maryland 20892-2757 [S. J. B., J. J. D.]

The nevoid basal cell carcinoma syndrome (NBCCS), or Gorlin syndrome, is a multisystem autosomal dominant disorder. The salient features of this syndrome include multiple basal cell carcinomas, palmar and/or plantar pits, odontogenic keratocysts, skeletal and developmental anomalies, and ectopic calcification. Other features include such tumors as ovarian fibromas and medulloblastomas. There is extensive interfamilial as well as intrafamilial variability with respect to the manifestation and severity of the phenotype. Alterations in the human homologue (PTCH) of the Drosophila segment polarity gene patched have been identified in NBCCS patients as well as tumors associated with this syndrome. We report several mutations in this gene in NBCCS patients and present the clinical phenotypes of the individuals in whom these mutations were identified.

¹ This work was supported by grants from the Brain Tumor Society and Swibelius Foundation and NIH Grants RO1CA57605 and P30CA16359 (A. E. B.) and K11CA60199 (M. R. G.). The content of this publication does not necessarily reflect the views or policies of the Department of Health and Human Services, nor does mention of trade names, commercial products, or organizations imply endorsement by the U. S. Government.

² To whom requests for reprints should be addressed, at Frederick Cancer Research and Development Center, Building 560, Room 21-18, National Cancer Institute, NIH, Frederick, MD 21702-1201. E-mail: dean@ncifcrf.gov.

Received 7/29/96. Accepted 8/28/96.

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